A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy.

Autor: Alagia M; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Fecarotta S; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Romano A; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Parrini E; Pediatric Neurology and Neurogenetics Unit and Laboratories Children's Hospital A. Meyer, Florence, Italy., Auricchio G; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Miano MG; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso'', National Research Council of Italy, 80131, Naples, Italy., Terrone G; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. Electronic address: gaetano.terrone@unina.it.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2023 Jan; Vol. 138, pp. 58-61. Date of Electronic Publication: 2022 Oct 27.
DOI: 10.1016/j.pediatrneurol.2022.10.011
Databáze: MEDLINE
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